ETL3
MCID: EPL128
MIFTS: 34

Epilepsy, Familial Temporal Lobe, 3 (ETL3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 3

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 3:

Name: Epilepsy, Familial Temporal Lobe, 3 57
Epilepsy, Familial Mesial Temporal Lobe 57 13 73
Familial Temporal Lobe Epilepsy 3 12 15
Fmtle 57 12
Epilepsy, Familial Mesial Temporal Lobe; Fmtle 57
Familial Mesial Temporal Lobe Epilepsy 12
Etl3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
relatively benign course
onset usually in second decade
genetic heterogeneity (see etl2, )


HPO:

32
epilepsy, familial temporal lobe, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Temporal Lobe, 3

Disease Ontology : 12 A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has material basis in variation in the chromosome region 4q13.2-q21.3.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 3, also known as epilepsy, familial mesial temporal lobe, is related to febrile seizures, familial, 11 and temporal epilepsy, familial, and has symptoms including dizziness An important gene associated with Epilepsy, Familial Temporal Lobe, 3 is FMTLE (Epilepsy, Familial Mesial Temporal Lobe). Affiliated tissues include temporal lobe, and related phenotypes are vertigo and focal impaired awareness seizure

Description from OMIM: 611630

Related Diseases for Epilepsy, Familial Temporal Lobe, 3

Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 3:



Diseases related to Epilepsy, Familial Temporal Lobe, 3

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dizziness
complex partial seizures
simple partial seizures
no hippocampal sclerosis
deja vu feeling
more

Clinical features from OMIM:

611630

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 3:

32
# Description HPO Frequency HPO Source Accession
1 vertigo 32 HP:0002321
2 focal impaired awareness seizure 32 HP:0002384
3 focal aware seizure 32 HP:0002349
4 deja vu 32 HP:0012005

UMLS symptoms related to Epilepsy, Familial Temporal Lobe, 3:


dizziness

MGI Mouse Phenotypes related to Epilepsy, Familial Temporal Lobe, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 DEPDC5 ESR1 KCNAB1 LGI1 NLGN1 SCN2A
2 mortality/aging MP:0010768 9.56 CA4 DEPDC5 ESR1 KCNAB1 LGI1 NLGN1
3 nervous system MP:0003631 9.17 DEPDC5 ESR1 KCNAB1 LGI1 NLGN1 SCN2A

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 3

Genetic Tests for Epilepsy, Familial Temporal Lobe, 3

Anatomical Context for Epilepsy, Familial Temporal Lobe, 3

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 3:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 3

Articles related to Epilepsy, Familial Temporal Lobe, 3:

# Title Authors Year
1
Familial mesial temporal lobe epilepsy and the borderland of déjà vu. ( 28681459 )
2017
2
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26. ( 24315020 )
2013
3
MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy. ( 23197748 )
2012
4
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. ( 20864493 )
2010
5
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. ( 17377072 )
2007
6
THE SCN2A gene is not a likely candidate for familial mesial temporal lobe epilepsy. ( 16914293 )
2006

Variations for Epilepsy, Familial Temporal Lobe, 3

Expression for Epilepsy, Familial Temporal Lobe, 3

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 3.

Pathways for Epilepsy, Familial Temporal Lobe, 3

GO Terms for Epilepsy, Familial Temporal Lobe, 3

Cellular components related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.33 KCNAB1 SCN2A SNCA
2 glutamatergic synapse GO:0098978 9.13 LGI1 NLGN1 SCN2A
3 rough endoplasmic reticulum GO:0005791 8.62 CA4 SNCA

Biological processes related to Epilepsy, Familial Temporal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.32 NLGN1 SNCA
2 synapse organization GO:0050808 9.26 NLGN1 SNCA
3 synaptic vesicle endocytosis GO:0048488 9.16 NLGN1 SNCA
4 positive regulation of synaptic transmission GO:0050806 8.96 LGI1 SNCA
5 synaptic vesicle transport GO:0048489 8.62 NLGN1 SNCA

Sources for Epilepsy, Familial Temporal Lobe, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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